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Spastic Ataxia with Congenital Miosis



  • Edema of the optic nerve head may be present. (See the section on papillitis in Chapter 3.)[guwsmedical.info]
  • Clonus Present Absent 6. Mass reflex Absent May be present 7. Bladder Precipitancy Automatic bladder 7.[slideshare.net]
  • Haemorrhage presents with occipital headache, vertigo, vomiting and altered consciousness.[patient.info]
  • Clinical presentation nausea and/or vomiting rapid progression toward a decreased leve...[radiopaedia.org]
  • Mild bradykinesia presents predominantly as gait disturbance but also as a general slowing of movement. Dysdiadochokinesia is also present and muscle tone is slightly increased.[findzebra.com]
  • Thus, with careful attention to the distribution and type of scale, family history, and skin histology, the physician will be able to classify patients in a meaningful way. Such an approach is helpful for several reasons.[pediatrics.aappublications.org]
  • It comes as a surprise to many physicians that deficiency diseases still occur in the United States and other parts of the developed world. To some extent this is attributable to the prevalence of alcoholism.[accessmedicine.mhmedical.com]
  • Pressure E-1868 106 Spinal Cord Injury E-1882 107 Determination of Brain Death in Infants and Children E-1910 108 Development and Function of the Cerebrovascular System E-1931 109 Arterial Ischemic Stroke in Infants and Children E-1941 110 Sinovenous Thrombosis[books.google.com]
  • Thrombosis of the Internal Auditory Artery Thrombosis of the internal auditory artery causes ipsilateral deafness and loss of vestibular function.[headnecksurgery.wordpress.com]
  • COMPLICATIONS OF PARAPLEGIA  Bed sores  Contractures  Urinary tract infection  Pneumonia  Deep venous thrombosis 61.[slideshare.net]
  • Causes of RAO include emboli, thrombosis, giant cell arteritis, and collagen-vascular diseases. Retinal Detachment Retinal detachment (RD) presents with a history of recurrent flashes or floaters in the same area of the visual field.[guwsmedical.info]
  • […] feature 30. a.F b.F c.T d.F e.F Benign intracranial hypertension: the eye movement is usually normal but there may be sixth nerve palsy the CT scan should be normal in young women on contraceptive pill, brain scan is important to exclude saggital sinus thrombosis[mrcophth.com]
Vascular Disease
  • Volume 2 covers tumors, the phacomatoses, and vascular disease. Volume 3 covers degenerative, metabolic, infectious, inflammatory, and demyelinating diseases.[books.google.com]
  • Causes of RAO include emboli, thrombosis, giant cell arteritis, and collagen-vascular diseases. Retinal Detachment Retinal detachment (RD) presents with a history of recurrent flashes or floaters in the same area of the visual field.[guwsmedical.info]
  • Common features of Sitosterolemia include tendon and tuberous xanthomas, early coronary vascular disease, chronic hemolytic anemia and thrombocytopenia. Only 80-100 cases have been reported worldwide.[rarediseasesnetwork.org]
  • In rest of the cases, common causes were aneurysms (19%), vascular disease (18%), head trauma (15%), and neoplasm (10%).[ncbi.nlm.nih.gov]
  • In rest of the cases, common causes were aneurysms (19%), vascular disease (18%), head trauma (15%), and neoplasm (10%). Rucker [7] again in 1966 undertook a study for another 1000 cases to determine the relative frequency of the various etiologies.[ojoonline.org]
Heart Disease
  • -2626 153 Endocrine Disorders of the Hypothalamus and Pituitary in Childhood and Adolescence E-2637 155 Disorders of Micturition and Defecation E-2670 156 Poisoning and DrugInduced Neurologic Diseases E-2689 157 Neurologic Disorders in Children with Heart[books.google.com]
  • disease - Type 2 diabetes mellitus Ventricular Septal Defect - Part of a number of conditions grouped as CCHD - Critical Congenital Heart Disease -opening in septum that divides ventricles -Frequently heard as a loud, harsh murmur at lower-left sternal[quizlet.com]
  • Associated syndromes: congenital heart disease, leukemia, premature Alzheimer's disease (same morphological changes).[kumc.edu]
  • disease, hernia of the esophageal orifice (see "Contraindications": Reflux-esophagitis).[onhealthing.com]
Facial Pain
  • This first volume covers the visual sensory system, the autonomic nervous system, the ocular motor system, the eyelid, facial pain and headache, and nonorganic disease. Volume 2 covers tumors, the phacomatoses, and vascular disease.[books.google.com]
  • FACIAL PAIN Sinusitis is a common cause of facial pain and headache. Trigeminal neuralgia, usually induced by palpation of a trigger zone, causes severe pain.[headnecksurgery.wordpress.com]
  • Frequency Orphanet Frequency HPO Source Accession 1 dysarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001260 2 congenital miosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0007728 3 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639 4 hyperreflexia[malacards.org]
  • WITH SPASTIC ATAXIA , SPASTIC ATAXIA WITH CONGENITAL MIOSIS Classification eye, genetic, neurological Phenotypes Abnormal conjugate eye movement ; Autosomal dominant inheritance ; Babinski sign ; Congenital miosis ; Dysarthria ; Dysdiadochokinesis ; Hyperreflexia[mousephenotype.org]
  • Hyperreflexia suggests an upper motor neuron dysfunction. Hyperreflexia usually has a positive Babinkski's sign and spasticity . Usually develops over a period of days to weeks (as opposed to immediate presentation).[wikidoc.org]
  • Physical examination as an adult showed significant ataxia, ankle clonus, hyperreflexia, and some abnormal movements suggestive of chorea.[findzebra.com]
  • […] paraplegia Hyperhidrosis Paraplegia Kyphosis Optic disc pallor Sensory axonal neuropathy Flexion contracture Limb muscle weakness Progressive spastic paraplegia Scoliosis Motor axonal neuropathy Violent behavior Inertia Exaggerated startle response Hyperreflexia[mendelian.co]
Slurred Speech
  • Affected individuals begin walking late and often have slurred speech. The IQ's in one family were measured to be less than 90. CT scans have not revealed cerebellar atrophy. Treatment Treatment Options: No treatment is available for this disorder.[disorders.eyes.arizona.edu]
  • Speech Episodic Ataxia Unknown Type Episodic Ataxia, Type 7 Episodic Ataxia Type 6 Episodic Ataxia Type 5 Episodic Ataxia Type 4 Episodic Ataxia Type 3 Episodic Ataxia Type 1 Epilepsy and/or Ataxia With Myoclonus as Major Feature Early-onset Spastic[explorer.opentrials.net]
  • Truncal ataxia with deterioration of gait Slurred speech and nystagmus Afebrile Diagnosis Acute Cerebellar ataxia is a diagnosis of exclusion.[findzebra.com]
  • The first symptoms often include clumsiness, fatigue, unsteady walking (gait), slow or slurred speech, difficulty swallowing (dysphagia) and dementia. Seizures of various types frequently occur.[findzebra.com]
  • The patient has ipsilateral cerebellar ataxia with hypotonia, nausea and vomiting, and slurred speech. There may be a central facial palsy, ipsilateral Horner syndrome, and partial deafness.[headnecksurgery.wordpress.com]
Gait Ataxia
  • Dominant: ataxia, gait ataxia, dysdiadochokinesis, ataxia, truncal, muscle spasticity Interventional clinical trials: # Name Status NCT ID Phase Drugs 1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford[malacards.org]
  • Ask the patient to walk heel-to-toe (to elicit any gait ataxia). If there are unilateral signs - check V, VII, and VIII (cerebellopontine angle pathology).[patient.info]
  • Clinical examination at age 13 years showed truncal and gait ataxia, small-amplitude...[findzebra.com]
  • ataxia Progressive gait ataxia Renal insufficiency Paraparesis Hemiplegia/hemiparesis Abnormality of mitochondrial metabolism Dysdiadochokinesis Progressive visual loss Pallor X-linked inheritance Vegetative state Abnormality of the periventricular white[mendelian.co]
  • Features included gait ataxia, wide-based gait, ocular dysmetria, intention tremor, scanning speech, dysdiadochokinesis, and hyperreflexia. She became a 'wheelchair user' 18 years after disease onset.[findzebra.com]
Neurologic Manifestation
  • Manifestations of Rheumatic Disorders of Childhood E-2172 123 Medulloblastoma E-2211 124 Other Embryonal and Pineal Malignancies of the Central Nervous System E-2221 125 Ependymoma E-2225 126 Pediatric Brain Tumors HighGrade Glioma E-2236 127 Pediatric[books.google.com]
  • manifestations, with females being unaffected.[mendelian.co]
  • Keywords episodic ataxia,Ataxia,Pathological Conditions, Signs and Symptoms,Nervous System Diseases,Signs and Symptoms,Neurologic Manifestations,Dyskinesias,Movement Disorders,Central Nervous System Diseases,Brain and nervous system,periodic vestibulocerebellar[findzebra.com]
Truncal Ataxia
  • Lesions of the midline vermis of the cerebellum cause truncal ataxia, while lesions of the cerebellar hemispheres cause limb ataxia of the ipsilateral side.[patient.info]
  • Patients had delayed motor development, truncal ataxia, nystagmus, and normal intelligence.[findzebra.com]
  • Ataxia Syndrome Infection or Post Infection Ataxia Infantile-onset Autosomal Recessive Nonprogressive Cerebellar Ataxia Infantile Onset Spinocerebellar Ataxia GAD Ataxia Hereditary Episodic Ataxia Gliadin/Gluten Ataxia Friedreich Ataxia Fragile X-Associated[explorer.opentrials.net]
  • ataxia syndrome Intermediate DEND syndrome Isolated dystonia Isolated focal cortical dysplasia Isolated focal cortical dysplasia type I Isolated focal cortical dysplasia type II Ito hypomelanosis Jeavons syndrome Joubert syndrome Joubert syndrome and[se-atlas.de]


  • Treatment Treatment Options: No treatment is available for this disorder.[disorders.eyes.arizona.edu]
  • Coverage includes major updates on genetics of diseases, new diagnostic techniques, and the newest treatment options.[books.google.com]
  • - Diagnosis: Measure head; Ultrasonography can determine size of ventricles - Treatment: Surgery to add shunt, or bypass around blockage[quizlet.com]
  • Cholic acid is an alternative treatment, but there is far less experience with this regimen and regulatory approval for this treatment is pending. CDCA is currently used off label to treat CTX.[rarediseasesnetwork.org]
  • […] and other new treatments; and the neurologic effects of illicit drug use.[books.google.ro]


  • The prognosis, troublesome features, and degree of handicapping differ for the various ichthyoses. Sensible genetic counseling, an important part of the management of such patients, is possible only with the correct diagnosis.[pediatrics.aappublications.org]
  • Prognosis of the pretectal syndrome varies with cause. Some resolution can be expected over several weeks as thalamic hemorrhages resolve. Shunting in hydrocephalus has variable effect (36). 5.[neuroophthalmology.ca]
  • Management and prognosis This depends upon the underlying cause.[patient.info]
  • Prognosis is unclear. However, mean disease duration from age at onset of illness to age at last examination is about 24 years in the reported cases.[findzebra.com]
  • […] keratitis. 6. a.T b.F c.F d.T e.F Uveal melanoma: occur mainly in the white population the incidence shows little difference between the sexes unlike retinoblastoma the optic nerves are seldom infiltrated epithelioid cell type is associated with poor prognosis[mrcophth.com]


  • ., cystic fibrosis Erythroblastosis Fetalis (Hemolytic Disease of the Newborn): single-gene disorder Characterized by excessive rates of RBC destruction Erythroblastosis Fetalis Etiology - Caused by incompatibility between maternal mother and fetal blood[quizlet.com]
  • In case acquired third nerve palsy, etiology varies in different age groups.[ojoonline.org]
  • Many classifications of the ichthyoses have been proposed, but most are descriptive and contribute little to an understanding of etiology and pathogenesis.[pediatrics.aappublications.org]
  • Cerebellar Ataxia X-linked Non Progressive Cerebellar Ataxia X-linked Cerebellar Ataxia Vitamin B12 Deficiency Ataxia Toxic Exposure Ataxia Unclassified Autosomal Dominant Spinocerebellar Ataxia Thyroid Antibody Ataxia Sporadic Adult-onset Ataxia of Unknown Etiology[explorer.opentrials.net]


  • Epidemiology A predilection for women has been reported 1. Age range is wide, from 24 to 86 years old reported 1. Clini...[radiopaedia.org]
  • It is a diagnosis of exclusion Epidemiology Acute cerebellar ataxia is the most common cause of unsteady gait in children. The condition is rare in children older than ten years of age.[findzebra.com]
Sex distribution
Age distribution


  • […] producing) - Most common lethal genetic disease among people of European descent - 1 in 2,400 births - Carried by autosomal recessive trait - Mutation of the CFTR gene disrupts chloride transport across plasma membrane (lining of lungs) Cystic Fibrosis Pathophysiology[quizlet.com]
  • The pathophysiologic mechanisms causing the manifestations of SLS are thought to be due to accumulation of long-chain fatty alcohols and fatty aldehydes in cellular membranes.[rarediseasesnetwork.org]
  • Pathophysiology Mutations in KCNC3 are responsible for SCA13.[findzebra.com]


  • Symptoms - Numerous fractures - Easily chipped teeth - Bluish sclerae (white-part of eye is blue) - Fracture callus may be normal but remodeled bone is of poor quality Osteogenesis Imperfecta Treatment - No effective treatment known - Directed toward preventing[quizlet.com]
  • […] fissure on adduction the condition may resolve spontaneously and therefore surgery is not usually indicated surgery include superior oblique tenotomy with silicone expander or superior oblique tenotomy with ipsilateral inferior oblique recession to prevent[mrcophth.com]
  • When mutated, TTPA prevents vitamin E linking to VLDLs, preventing it to pass into general circulation.[findzebra.com]
  • Early treatment can prevent most, if not all, clinical complications. Replacement of CDCA inhibits the conversion of cholesterol to cholestanol and reduces the production of bile alcohols.[rarediseasesnetwork.org]
  • Acetazolamide prevented the attacks in both the proband and the mother, and the attacks recurred when acetazolamide was briefly discontinued.[findzebra.com]

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